GLA c.639+5G>A

Variant ID: X-100655649-C-T

NM_000169.2(GLA):c.639+5G>A

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.

Medicine
Choi, Jin-Ho JH; Lee, Beom Hee BH; Heo, Sun Hee SH; Kim, Gu-Hwan GH; Kim, Yoo-Mi YM; Kim, Dae-Seong DS; Ko, Jung Min JM; Sohn, Young Bae YB; Hong, Yong Hee YH; Lee, Dong-Hwan DH; Kook, Hoon H; Lim, Han Hyuk HH; Kim, Kyung Hee KH; Kim, Woo-Shik WS; Hong, Geu-Ru GR; Kim, Su-Hyun SH; Park, Sang Hyun SH; Kim, Chan-Duck CD; Kim, So Mi SM; Seo, Jeong-Sook JS; Yoo, Han-Wook HW
Publication Date: 2017-07

Variant appearance in text: GLA: 639+5G>A
PubMed Link: 28723748
Variant Present in the following documents:
  • Main text
  • medi-96-e7387.pdf
View BVdb publication page